General Information of Disease (ID: DISRLYU1)

Disease Name Lynch syndrome 2
Synonyms
HNPCC2; COCA2; colon cancer, familial nonpolyposis, type 2; colorectal cancer, hereditary nonpolyposis, type 2; Hereditary nonpolyposis colorectal cancer type 2; Lynch 2 syndrome; familial non-polyposis colon cancer type 2; Hereditary non-polyposis colon cancer type 2
Definition Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MLH1 gene.
Disease Hierarchy
DISPA49R: Hereditary nonpolyposis colon cancer
DIS3HIWD: Autosomal dominant disease
DISRLYU1: Lynch syndrome 2
Disease Identifiers
MONDO ID
MONDO_0012249
MESH ID
D055847
UMLS CUI
C1333991
OMIM ID
609310
MedGen ID
232603

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 9 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CDH1 TTLAWO6 Limited Biomarker [1]
CDKN1B TTLGFVW Limited Biomarker [2]
CHEK2 TT9ABMF Limited Biomarker [3]
MSH2 TTCAWRT Limited CausalMutation [4]
PTPRJ TTWMKXP Limited Biomarker [5]
SMARCA4 TTVQEZS Limited Biomarker [6]
ATM TTKBM7V moderate Biomarker [7]
MLH1 TTISG27 Definitive Autosomal dominant [8]
MLH1 TTISG27 Definitive Genetic Variation [3]
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⏷ Show the Full List of 9 DTT(s)
This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
EPHX1 DELB4KP Limited Biomarker [2]
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This Disease Is Related to 10 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
BARD1 OTTC0Z9Y Limited Biomarker [9]
FAN1 OT1LM1HZ Limited Biomarker [10]
MSH3 OTD3YPVL Limited Biomarker [11]
NFKBIZ OTU728KS Limited Biomarker [2]
PALB2 OT6DNDBG Limited Biomarker [12]
RPS20 OTI8052R Limited Biomarker [13]
SEMA4A OT8901H3 Limited Biomarker [11]
EXO1 OTI87RS5 Disputed Biomarker [14]
MLH3 OT91PPBI moderate Biomarker [15]
MLH1 OTG5XDD8 Definitive Autosomal dominant [8]
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⏷ Show the Full List of 10 DOT(s)

References

1 Loss of CDH1 (E-cadherin) expression is associated with infiltrative tumour growth and lymph node metastasis.Br J Cancer. 2016 Jan 19;114(2):199-206. doi: 10.1038/bjc.2015.347. Epub 2016 Jan 7.
2 Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer. Genet Med. 2015 Feb;17(2):131-42. doi: 10.1038/gim.2014.89. Epub 2014 Jul 24.
3 Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer.J Clin Oncol. 2017 Apr 1;35(10):1086-1095. doi: 10.1200/JCO.2016.71.0012. Epub 2017 Jan 30.
4 Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.Nat Genet. 2014 Feb;46(2):107-115. doi: 10.1038/ng.2854. Epub 2013 Dec 22.
5 Tumor Suppressor PTPRJ Is a Target of miR-155 in Colorectal Cancer.J Cell Biochem. 2017 Oct;118(10):3391-3400. doi: 10.1002/jcb.25995. Epub 2017 May 3.
6 The chromatin-remodeling enzyme BRG1 promotes colon cancer progression via positive regulation of WNT3A.Oncotarget. 2016 Dec 27;7(52):86051-86063. doi: 10.18632/oncotarget.13326.
7 The depletion of ATM inhibits colon cancer proliferation and migration via B562-mediated Chk1/p53/CD44 cascades.Cancer Lett. 2017 Apr 1;390:48-57. doi: 10.1016/j.canlet.2016.12.040. Epub 2017 Jan 14.
8 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
9 Expression of an Oncogenic BARD1 Splice Variant Impairs Homologous Recombination and Predicts Response to PARP-1 Inhibitor Therapy in Colon Cancer.Sci Rep. 2016 May 20;6:26273. doi: 10.1038/srep26273.
10 Ubiquitinated Fancd2 recruits Fan1 to stalled replication forks to prevent genome instability.Science. 2016 Feb 19;351(6275):846-9. doi: 10.1126/science.aad5634. Epub 2016 Jan 21.
11 Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis. Am J Hum Genet. 2016 Aug 4;99(2):337-51. doi: 10.1016/j.ajhg.2016.06.015. Epub 2016 Jul 28.
12 Inherited DNA-Repair Defects in Colorectal Cancer.Am J Hum Genet. 2018 Mar 1;102(3):401-414. doi: 10.1016/j.ajhg.2018.01.018. Epub 2018 Feb 22.
13 Validation of Recently Proposed Colorectal Cancer Susceptibility Gene Variants in an Analysis of Families and Patients-a Systematic Review.Gastroenterology. 2017 Jan;152(1):75-77.e4. doi: 10.1053/j.gastro.2016.09.041. Epub 2016 Oct 3.
14 Molecular characteristics of mismatch repair genes in sporadic colorectal tumors in Czech patients.BMC Med Genet. 2014 Jan 31;15:17. doi: 10.1186/1471-2350-15-17.
15 Biochemical characterization of MLH3 missense mutations does not reveal an apparent role of MLH3 in Lynch syndrome.Genes Chromosomes Cancer. 2009 Apr;48(4):340-50. doi: 10.1002/gcc.20644.